A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8949290



Internal ID13532332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69548982..69548995hg38UCSC Ensembl
Innerchr10:69548977..69549000hg38UCSC Ensembl
Outerchr10:69548964..69549013hg38UCSC Ensembl
chr10:71308738..71308751hg19UCSC Ensembl
Innerchr10:71308733..71308756hg19UCSC Ensembl
Outerchr10:71308720..71308769hg19UCSC Ensembl
chr10:70978744..70978757hg18UCSC Ensembl
Innerchr10:70978762..70978739hg18UCSC Ensembl
Outerchr10:70978726..70978775hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3356029
Supporting Variants
SamplesNA12750
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8949290
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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